Linked Data
ClinVar Variation Id:
235456
ClinVar RCV Id:
RCV000224661
dbSNP Id:
rs192260189
ExAC:
9:215081 T / G
gnomAD v2:
9-215081-T-G
gnomAD v3:
9-215081-T-G
gnomAD v4:
9-215081-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.215081T>G , CM000671.2:g.215081T>G | GRCh38 |
| NC_000009.11:g.215081T>G , CM000671.1:g.215081T>G | GRCh37 |
| NC_000009.10:g.205081T>G | NCBI36 |
| NG_017007.1:g.5217T>G , LRG_196:g.5217T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682121.1:n.165+52T>G (DOCK8) | ||
| ENST00000684166.1:n.162+52T>G (DOCK8) | ||
| ENST00000684384.1:n.162+52T>G (DOCK8) | ||
| ENST00000432829.7:c.53+52T>G (DOCK8) MANE Select | ENSP00000394888.3:n.53+52T>G | |
| ENST00000382387.3:c.316A>C (DOCK8-AS1) | ENSP00000371824.2:p.Thr106Pro | |
| ENST00000432829.6:c.53+52T>G (DOCK8) | ENSP00000394888.3:n.53+52T>G | |
| ENST00000454469.6:n.162+52T>G (DOCK8) | ||
| ENST00000469197.5:c.53+52T>G (DOCK8) | ENSP00000418587.1:n.53+52T>G | |
| ENST00000524396.5:c.53+52T>G (DOCK8) | ENSP00000436628.1:n.53+52T>G | |
| NM_152569.2:c.316A>C (DOCK8-AS1) | NP_689782.2:p.Thr106Pro | |
| NM_203447.3:c.53+52T>G , LRG_196t1:c.53+52T>G (DOCK8) | NP_982272.2:n.53+52T>G | |
| XM_011518045.3:c.-152+3765T>G (DOCK8) | XP_011516347.1:n.-152+3765T>G | |
| XM_017015173.1:c.-152+3765T>G (DOCK8) | XP_016870662.1:n.-152+3765T>G | |
| NR_160804.1:n.670A>C (DOCK8-AS1) | ||
| NM_203447.4:c.53+52T>G (DOCK8) MANE Select | NP_982272.2:n.53+52T>G |